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Atxn3 Gene Detail
Summary
  • Symbol
    Atxn3
  • Name
    ataxin 3
  • Synonyms
    2210008M02Rik, ataxin-3, Atx3, Mjd, MJD1, Sca3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1099442
    NCBI Gene: 110616
  • Gene Overview
    MyGene.info: ATXN3
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:101918901-101958243 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 51.32 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    271 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1099442
protein coding gene Chr12:101918901-101958246 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020027
protein coding gene Chr12:103522682-103563869 (-)
A/J MGP_AJ_G0019983
protein coding gene Chr12:99548479-99587652 (-)
AKR/J MGP_AKRJ_G0019959
protein coding gene Chr12:102383638-102425344 (-)
BALB/cJ MGP_BALBcJ_G0019969
protein coding gene Chr12:99891326-99930190 (-)
C3H/HeJ MGP_C3HHeJ_G0019771
protein coding gene Chr12:102833720-102876536 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020418
protein coding gene Chr12:106767342-106809635 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018031
protein coding gene Chr12:96576833-96614620 (-)
CAST/EiJ MGP_CASTEiJ_G0019317
protein coding gene Chr12:97652933-97694924 (-)
CBA/J MGP_CBAJ_G0019743
protein coding gene Chr12:110701946-110749096 (-)
DBA/2J MGP_DBA2J_G0019854
protein coding gene Chr12:99074001-99113421 (-)
FVB/NJ MGP_FVBNJ_G0019843
protein coding gene Chr12:97790797-97830498 (-)
LP/J MGP_LPJ_G0019930
protein coding gene Chr12:103378620-103417742 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019883
protein coding gene Chr12:114198694-114244029 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020447
protein coding gene Chr12:101885930-101926193 (-)
PWK/PhJ MGP_PWKPhJ_G0019080
protein coding gene Chr12:93628998-93670448 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018876
protein coding gene Chr12:96066356-96106087 (-)
WSB/EiJ MGP_WSBEiJ_G0019371
protein coding gene Chr12:102767934-102809764 (-)



Homology
more
  • Human Ortholog
    ATXN3, ataxin 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATXN3, ataxin 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AT3, ATX3, JOS, MJD, MJD1, SCA3
  • Links
    NCBI Gene ID: 4287
    neXtProt AC: NX_P54252
    UniProt: P54252

  • Chr Location
    14q32.12; chr14:92058552-92106621 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3658
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ATXN3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human ATXN3 associations

Human Disease Mouse Models
      
IDs
View 17 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    13 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 3 alleles in 3 genetic backgrounds
    94 phenotypes from multigenic genotypes
    88 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110616 NCBI Gene Model | MGI Sequence Detail 39343 C57BL/6J ±  kb
    transcript NM_029705 RefSeq | MGI Sequence Detail 5376 C57BL/6  
    polypeptide Q9CVD2 UniProt | EBI | MGI Sequence Detail 355 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 80
      cDNA 80

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1923952, MGI:2144838, MGI:2144872
    References
    more
    • Summaries
      All 137
      Developmental Gene Expression 4
      Diseases 10
      Gene Ontology 14
      Phenotypes 88
    • Earliest
      J:43214 Kawaguchi Y, et al., CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet. 1994 Nov;8(3):221-8
    • Latest
      J:265858 Zeng L, et al., Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways. PLoS One. 2018;13(9):e0204438

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory